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直接面向消费者的药物基因组学检测改善临床结局的策略。

Strategies to Improve the Clinical Outcomes for Direct-to-Consumer Pharmacogenomic Tests.

机构信息

Department of Analysis and Bioanalysis of Medicines, Faculty of Pharmacy with the Division of Laboratory Medicine, Medical University of Bialystok, 15-089 Bialystok, Poland.

Clinical Research Centre, Medical University of Bialystok, 15-276 Bialystok, Poland.

出版信息

Genes (Basel). 2021 Mar 3;12(3):361. doi: 10.3390/genes12030361.

DOI:10.3390/genes12030361
PMID:33802585
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7999840/
Abstract

Direct-to-consumer genetic tests (DTC-GT) have become a bridge between marketing and traditional healthcare services. After earning FDA endorsement for such facilities, several fast-developing companies started to compete in the related area. Pharmacogenomic (PGx) tests have been introduced as potentially one of the main medical services of such companies. Most of the individuals will be interested in finding out about the phenotypic consequences of their genetic variants and molecular risk factors against diverse medicines they take or will take later. Direct-to-consumer pharmacogenomic tests (DTC-PT) is still in its young age, however it is expected to expand rapidly through the industry in the future. The result of PGx tests could be considered as the main road toward the implementation of personalized and precision medicine in the clinic. This narrative critical review study provides a descriptive overview on DTC-GT, then focuses on DTC-PT, and also introduces and suggests the potential approaches for improving the clinical related outcomes of such tests on healthcare systems.

摘要

直接面向消费者的基因检测(DTC-GT)已经成为营销和传统医疗服务之间的桥梁。在获得 FDA 对这类设施的认可后,几家快速发展的公司开始在相关领域展开竞争。药物基因组学(PGx)检测已被引入作为这类公司的主要医疗服务之一。大多数人都有兴趣了解他们的遗传变异和分子风险因素对他们目前或以后服用的各种药物的表型后果。直接面向消费者的药物基因组学检测(DTC-PT)还处于起步阶段,但预计未来将通过该行业迅速扩张。PGx 检测的结果可以被认为是在临床实践中实施个性化和精准医学的主要途径。本叙述性批判性综述研究对 DTC-GT 进行了描述性概述,然后重点介绍了 DTC-PT,并介绍和提出了改善这些检测对医疗保健系统相关临床结果的潜在方法。

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本文引用的文献

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Prevalence and types of inconsistencies in clinical pharmacogenetic recommendations among major U.S. sources.美国主要信息来源中临床药物遗传学建议的不一致性患病率及类型
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Expert Rev Precis Med Drug Dev. 2017;2(6):327-336. doi: 10.1080/23808993.2017.1398046. Epub 2017 Nov 3.
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Hum Genomics. 2019 Aug 27;13(1):39. doi: 10.1186/s40246-019-0229-z.
6
Direct-to-Consumer Genetic Testing Data Privacy: Key Concerns and Recommendations Based on Consumer Perspectives.直接面向消费者的基因检测数据隐私:基于消费者视角的关键问题与建议
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